Article
Autoimmune polyglandular syndrome type 1 and the autoimmune regulator.
Clinics in laboratory medicine - 1 Mar 2004
Ruan Qing-Guo, She Jin-Xiong
Abstract excerpt
The autoimmune polyglandular syndrome type I (APSI) is an auto-somal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APSI has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APSI and the defects include nonsense...
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